ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250071
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1028194
ClinVar RCV Id:
RCV001329177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334649.1:p.Gln175Arg
CA389344678
NM_001347720.2:c.524A>G